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Disease Profile

Testicular seminoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

C62.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Seminoma of testis; Seminomatous germ cell tumor of testis; Testicular seminomatous germ cell tumor

Categories

Kidney and Urinary Diseases; Rare Cancers

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 842

Definition
Testicular seminomatous germ cell tumor is a rare testicular germ cell tumor (see this term), most commonly presenting with a painless mass in the scrotum, with a very high cure rate if caught in the early stages.

Epidemiology
Annual incidence in Europe is 1/62,000 people. It accounts for 40% of testicular cancer cases.

Clinical description
Seminoma usually presents in males between the ages of 30-40. A painless mass in the scrotum is indicative of disease. A long-standing hydrocele may be noted causing a feeling of heaviness in the testicle. Gynecomastia and back and flank pain are symptoms that are seen in some patients. Relapse after surgery can occur, usually (in 97% of cases) in the high iliac or retroperitoneal lymph nodes. Metastasis, although rare, can occur in some cases, affecting the lungs, liver, bones and central nervous system.

Etiology
Etiology is unknown but tumors are thought to arise from an embryonic germ cell leading to testicular intraepithelial neoplasia (the precursor to classical seminoma). Cryptorchidism is a risk factor for the development of testicular seminomatous germ cell tumors.

Diagnostic methods
Ultrasound usually confirms the presence of a testicular mass. Measurement of tumor markers in blood such as alpha-fetoprotein (AFP), beta human chorionic gonadotropin (BHC) and lactate dehydrogenase (LDH) is needed as it can be useful in cases where the tumor is still very small. Classical seminoma does not secrete AFP and patients with raised levels of this tumor marker are given a diagnosis of non-seminoma. After surgical removal of testicle, histopathological characteristics are analyzed and a stage can be assigned. In stage 1 disease the primary tumor is limited to the testis and epididymus with possible invasion of the tunica albuginea, tunica vaginalis, spermatic cord and scrotum but no lymph node or distant metastasis. Stage 2 (2A, 2B and 2C) disease features regional lymph node metastasis and stage 3 has distant metastasis of varying degrees.

Differential diagnosis
Testicular non seminomatous germ cell tumors (see this term) must be excluded.

Management and treatment
Treatment for stage 1 seminoma involves an orchiectomy or partial orchiectomy in some cases. Most patients (88%) do not require any further treatment and only surveillance is necessary. In those cases where follow up is difficult, adjuvant carboplatin or radiotherapy can be applied. Para-aortic and ipsilateral iliac radiotherapy (30 Gy in 2 Gy fractions) is the standard treatment of stage 2A seminoma. Cisplatin, etoposide and bleomycin (PEB) chemotherapy (three cycles) or cisplatin and etoposide (PE) chemotherapy (4 cycles) is an alternative to radiotherapy (but has more acute toxicity). Those with stage 2B, 2C and stage 3 seminomas are given PEB chemotherapy (three or four cycles depending on prognosis). In those with a reduced lung capacity or with emphysema or in severe smokers, 4 cycles of PE is preferred over PEB. Ifosfamide is given instead of bleomycin in certain cases (i.e. patients with existing lung damage). Follow up and sometimes a PET scan is recommended to monitor for residual lesions. Due to cosmetic and psychological reasons, patients may be offered testicular prostheses after an orchidectomy.

Prognosis
Prognosis is good but depends on the stage of disease with 5year survival rates as high as 99% in stage 1 disease. Relapse rates at 5 years depend on risk factors (ex. invasion of the rete testis, tumor size >4cm) present, but is only 12% in those with no risk factors.

Visit the Orphanet disease page for more resources.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Testicular seminoma. Click on the link to view a sample search on this topic.